A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
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Author / Creator
Mederer, Tanja , Schmitteckert, Stefanie , Volz, Julia , Martínez, Cristina , Röth, Ralph , Thumberger, Thomas , Eckstein, Volker , Scheuerer, Jutta , Thöni, Cornelia , Lasitschka, Felix , Carstensen, Leonie , Günther, Patrick , Holland-Cunz, Stefan , Hofstra, Robert , Brosens, Erwin , Rosenfeld, Jill A. , Schaaf, Christian P. , Schriemer, Duco , Ceccherini, Isabella , Rusmini, Marta , Tilghman, Joseph , Luzón-Toro, Berta , Torroglosa, Ana , Borrego, Salud , Sze-man Tang, Clara , Garcia-Barceló, Mercè , Tam, Paul , Paramasivam, Nagarajan , Bewerunge-Hudler, Melanie , De La Torre, Carolina , Gretz, Norbert , Rappold, Gudrun A. , Romero, Philipp and Niesler, Beate
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variants accounting for disease phenotype are identified only in a minority of cases, and the identificatio...
Alternative Titles
Full title
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Authors, Artists and Contributors
Author / Creator
Schmitteckert, Stefanie
Volz, Julia
Martínez, Cristina
Röth, Ralph
Thumberger, Thomas
Eckstein, Volker
Scheuerer, Jutta
Thöni, Cornelia
Lasitschka, Felix
Carstensen, Leonie
Günther, Patrick
Holland-Cunz, Stefan
Hofstra, Robert
Brosens, Erwin
Rosenfeld, Jill A.
Schaaf, Christian P.
Schriemer, Duco
Ceccherini, Isabella
Rusmini, Marta
Tilghman, Joseph
Luzón-Toro, Berta
Torroglosa, Ana
Borrego, Salud
Sze-man Tang, Clara
Garcia-Barceló, Mercè
Tam, Paul
Paramasivam, Nagarajan
Bewerunge-Hudler, Melanie
De La Torre, Carolina
Gretz, Norbert
Rappold, Gudrun A.
Romero, Philipp
Niesler, Beate
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2479449653
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2479449653
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1009106
